| 1. |
- Hambraeus, Mette, et al.
(författare)
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Differential Activation of Immune Effector Processes in Mature Compared to Immature Sacrococcygeal Teratomas
- 2022
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Ingår i: Fetal and Pediatric Pathology. - : Informa UK Limited. - 1551-3815 .- 1551-3823. ; 41:3, s. 413-425
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Tidskriftsartikel (refereegranskat)abstract
- Objective: This study aims to characterize the molecular signatures of sacrococcygeal teratomas (SCTs). Methods: Three SCTs were analyzed with whole genome genotyping. RNA sequencing of 10 SCTs dominated by mature, immature and neuroglial elements was analyzed. Expression in SCT-samples with different elements were compared to each other and to a reference group of malignant pediatric tumors. Macrophages, T- and B-lymphocytes were detected by immunohistochemistry. Results: No chromosomal imbalances were detected. SCTs showed overexpression of genes involved in neurosignaling, DNA-binding molecules and pathways of early germ cells. Genes associated with immune effector processes were overexpressed in mature compared to immature SCTs, and immune cell infiltration was found predominantly around mature epithelial elements. Conclusion: The broad repertoire of histological elements in SCTs reflects differences in transcriptional regulation rather than differences in gene copy numbers. A paucity of immune response in immature SCTs may be a factor contributing to their uninhibited growth.
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| 2. |
- Jahan, Yasmin, et al.
(författare)
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Ectopia Cordis: 6-Year Survival without Surgical Correction
- 2021
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Ingår i: FETAL AND PEDIATRIC PATHOLOGY. - : TAYLOR & FRANCIS INC. - 1551-3815 .- 1551-3823. ; 40:5, s. 540-542
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Tidskriftsartikel (refereegranskat)abstract
- Background: Ectopia cordis is a complete or partial extrusion of the heart through a ventral defect in the thoracoabdominal wall, either isolated or accompanied by other viscera in instances of pentalogy of Cantrell. Case Report: This six-year-old child has survived with uncorrected ectopia cordis. He is unable to participate in strenuous physical activities and has respiratory limitations. Conclusion: Ectopia cordis most commonly results in stillbirth or neonatal death without surgical treatment. This report highlights the exceptional 6-year survival of a child without surgical correction.
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| 3. |
- Kazanowska, Bernarda, et al.
(författare)
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Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children
- 2007
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Ingår i: Fetal and Pediatric Pathology. - : Informa UK Limited. - 1551-3823 .- 1551-3815. ; 26:1, s. 17-31
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Tidskriftsartikel (refereegranskat)abstract
- Rhabdomyosarcoma is a highly malignant embryonic tumor of childhood. Two specific translocations t(2;13)(q35;q14) and t(1;13)(p36;q14) have been identified in about 75-80% of ARMS cells. The aim of this multicenter study was to analyze the relationships between the identified fusion transcripts and survival including some selected clinical parameters. The extent of disease was graded according to clinical staging system with following distribution: 3 children with stage I, 4 with stage II, 23 with stage III, and 18 with stage IV spread disease having distant metastases. PAX3-FKHR fusion genes were detected in 28 and PAX7-FKHR fusion genes in 7 tumor biopsy specimens. Children with PAX3-FKHR fusion gene had often distant metastases at presentation (p = 0.03). PAX3-FKHR positive patients with locoregional disease had significantly poorer outcome compared with the ones with PAX7-FKHR positive tumors (p = 0.04). Although analyzed groups were small, significant differences in survival and clinical characteristics between PAX3-FKHR and PAX7-FKHR positive tumors were stated indicating their role in carcinogenesis. In addition, fusion gene analysis is a helpful tool in differential diagnosis of poorly differentiated soft tissue tumors.
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| 4. |
- Perskvist, Nasrin, 1952-, et al.
(författare)
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TNF-α and IL-10 gene polymorphisms versus cardioimmunological responses in sudden infant death
- 2008
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Ingår i: Fetal & Pediatric Pathology. - : Informa UK Limited. - 1551-3815 .- 1551-3823. ; 27:3, s. 149-165
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Tidskriftsartikel (refereegranskat)abstract
- We hypothesized that genetic variations of cytokines could contribute to the risk of developing a fatal immunological reaction in the heart of infants. Thus, tumor necrosis factor (TNF)-α and interleukin (IL)-10 gene polymorphisms versus induction of cardioimmunologxical responses in victims of sudden infant death syndrome (SIDS) were explored. We genotyped 35 infants (23 cases of SIDS and 12 infants with a known cause of death), and 100 healthy adult controls for IL-10 –1082 G/A, −592 C/A and TNF-α-238 G/A, −308 G/A. We found a higher frequency of the ATA haplotype and ATA/ATA genotype of IL-10 associated with SIDS (13%). The frequency of homozygote infants for IL-10 haplotypes in SIDS was higher (52%) than the control group (34%). All SIDS cases were homozygotice for the TNF-α-238 G allele and 20 infants were homozygous for the TNF-α-308 G allele in the same group. None of the infants with higher levels of infiltrated T-cells (n=8) was homozygous for IL-10 gene polymorphisms, whereas in contrast 3 cases of the 6 that displayed higher levels of cardiac mast cells were homozygous. In this study, the increased number of interstitial T-cells, mast cells, and macrophages in the myocardial interstitium demonstrated no correlation with the genotype for either cytokines.
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| 5. |
- Ehinger, Daniel, et al.
(författare)
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SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma
- 2023
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Ingår i: Fetal and Pediatric Pathology. - 1551-3815. ; 42:5, s. 723-734
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Tidskriftsartikel (refereegranskat)abstract
- Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing sarcoma had 10% or less positive tumor cells. Pleuropulmonary blastoma exhibited 26–50% positive tumor cells and synovial sarcoma >50% positive cells. Conclusion: SIX1 immunohistochemistry is positive in most RMS, and occasionally in some tumors within the differential diagnoses of RMS.
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| 6. |
- Sivén, Maria, et al.
(författare)
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Agenesis of the ductus venosus and its correlation to hydrops fetalis and the fetal hepatic circulation: case reports and review of the literature.
- 1995
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Ingår i: Fetal and Pediatric Pathology. - : Informa UK Limited. - 1551-3823. ; 15:1, s. 39-50
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Tidskriftsartikel (refereegranskat)abstract
- Under normal conditions about 50% of the placental venous return bypasses the liver through the ductus venosus. This blood flow is preferentially directed toward the foramen ovale and provides optimum oxygenation to the fetal heart and brain. Absence of the ductus venosus is a rare vascular anomaly, the significance of which has been disputed. We distinguish the pattern in which the liver is entirely bypassed, a manifestation of a fundamental malformation in the umbilical venous system, from the pattern in which the ductus venosus is absent despite a normal course of the umbilical vein. We review the literature regarding the latter and report eight new cases. Three of the four previously reported cases showed associated malformations and two of them suffered from portal congestion and hydrops. Among our eight cases three showed severe malformations in the cardiovascular system. Three cases presented themselves with hydrops fetalis and disturbance in the portal circulation, and two case
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